| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102851253_102856067del | CA916084430 | PAH | c.510-735_912+434del c.495-735_897+434del | ClinVar |
| 12 | g.102852922_102852935delinsTACAGGTCGGAGG | CA2580085703 | PAH | c.722_735delinsCCTCCGACCTGTA (p.Arg241ProfsTer5) c.707_720delinsCCTCCGACCTGTA (p.Arg236ProfsTer5) n.481_494delinsCCTCCGACCTGTA | ClinVar dbSNP |
| 12 | g.102852931G>A | CA481331569 | PAH | c.726C>T (p.Leu242=) c.711C>T (p.Leu237=) n.485C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852931G>C | CA481331570 | PAH | c.726C>G (p.Leu242=) c.711C>G (p.Leu237=) n.485C>G | |
| 12 | g.102852931G= | CA2059446679 | PAH | c.726C= (p.Leu242=) c.711C= (p.Leu237=) n.485C= | |
| 12 | g.102852931G>T | CA481331571 | PAH | c.726C>A (p.Leu242=) c.711C>A (p.Leu237=) n.485C>A | |
| 12 | g.102852932A>C | CA386295806 | PAH | c.725T>G (p.Leu242Arg) c.710T>G (p.Leu237Arg) n.484T>G | |
| 12 | g.102852932A>G | CA386295808 | PAH | c.725T>C (p.Leu242Pro) c.710T>C (p.Leu237Pro) n.484T>C | |
| 12 | g.102852932A>T | CA386295811 | PAH | c.725T>A (p.Leu242His) c.710T>A (p.Leu237His) n.484T>A | gnomAD v4 |
| 12 | g.102852933G>A | CA229718 | PAH | c.724C>T (p.Leu242Phe) c.709C>T (p.Leu237Phe) n.483C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852933G>C | CA386295816 | PAH | c.724C>G (p.Leu242Val) c.709C>G (p.Leu237Val) n.483C>G | |
| 12 | g.102852933G= | CA2059446681 | PAH | c.724C= (p.Leu242=) c.709C= (p.Leu237=) n.483C= | |
| 12 | g.102852933G>T | CA386295819 | PAH | c.724C>A (p.Leu242Ile) c.709C>A (p.Leu237Ile) n.483C>A | |
| 12 | g.102852934del | CA2695217157 | PAH | c.724del (p.Leu242SerfsTer?) c.709del (p.Leu237SerfsTer?) n.483del | |
| 12 | g.102852934G>A | CA481331574 | PAH | c.723C>T (p.Arg241=) c.708C>T (p.Arg236=) n.482C>T | gnomAD v4 |
| 12 | g.102852934G>C | CA481331572 | PAH | c.723C>G (p.Arg241=) c.708C>G (p.Arg236=) n.482C>G | |
| 12 | g.102852934G>T | CA481331573 | PAH | c.723C>A (p.Arg241=) c.708C>A (p.Arg236=) n.482C>A | |
| 12 | g.102852934_102852935delinsGC | CA2059446685 | PAH | c.722_723delinsGC (p.Arg241=) c.707_708delinsGC (p.Arg236=) n.481_482delinsGC | |
| 12 | g.102852935del | CA229717 | PAH | c.722del (p.Arg241ProfsTer?) c.707del (p.Arg236ProfsTer?) n.481del | ClinVar dbSNP |
| 12 | g.102852935C>A | CA229716 | PAH | c.722G>T (p.Arg241Leu) c.707G>T (p.Arg236Leu) n.481G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852935C= | CA2059446693 | PAH | c.722G= (p.Arg241=) c.707G= (p.Arg236=) n.481G= | |
| 12 | g.102852935C>G | CA386295825 | PAH | c.722G>C (p.Arg241Pro) c.707G>C (p.Arg236Pro) n.481G>C | |
| 12 | g.102852935C>T | CA286507 | PAH | c.722G>A (p.Arg241His) c.707G>A (p.Arg236His) n.481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852936G>A | CA273357 | PAH | c.721C>T (p.Arg241Cys) c.706C>T (p.Arg236Cys) n.480C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852936G>C | CA386295833 | PAH | c.721C>G (p.Arg241Gly) c.706C>G (p.Arg236Gly) n.480C>G | |
| 12 | g.102852936G= | CA2059446698 | PAH | c.721C= (p.Arg241=) c.706C= (p.Arg236=) n.480C= | |
| 12 | g.102852936G>T | CA386295836 | PAH | c.721C>A (p.Arg241Ser) c.706C>A (p.Arg236Ser) n.480C>A | ClinVar dbSNP |
| 12 | g.102852937G>A | CA481331575 | PAH | c.720C>T (p.Phe240=) c.705C>T (p.Phe235=) n.479C>T | |
| 12 | g.102852937G>C | CA386295838 | PAH | c.720C>G (p.Phe240Leu) c.705C>G (p.Phe235Leu) n.479C>G | |
| 12 | g.102852937G>T | CA386295840 | PAH | c.720C>A (p.Phe240Leu) c.705C>A (p.Phe235Leu) n.479C>A | |
| 12 | g.102852938A= | CA2059446702 | PAH | c.719T= (p.Phe240=) c.704T= (p.Phe235=) n.478T= | |
| 12 | g.102852938A>C | CA386295844 | PAH | c.719T>G (p.Phe240Cys) c.704T>G (p.Phe235Cys) n.478T>G | COSMIC |
| 12 | g.102852938A>G | CA229715 | PAH | c.719T>C (p.Phe240Ser) c.704T>C (p.Phe235Ser) n.478T>C | ClinVar dbSNP |
| 12 | g.102852938A>T | CA386295845 | PAH | c.719T>A (p.Phe240Tyr) c.704T>A (p.Phe235Tyr) n.478T>A | |
| 12 | g.102852939A= | CA2059446708 | PAH | c.718T= (p.Phe240=) c.703T= (p.Phe235=) n.477T= | |
| 12 | g.102852939A>C | CA229713 | PAH | c.718T>G (p.Phe240Val) c.703T>G (p.Phe235Val) n.477T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852939A>G | CA386295846 | PAH | c.718T>C (p.Phe240Leu) c.703T>C (p.Phe235Leu) n.477T>C | |
| 12 | g.102852939A>T | CA386295847 | PAH | c.718T>A (p.Phe240Ile) c.703T>A (p.Phe235Ile) n.477T>A | |
| 12 | g.102852940A>C | CA481331576 | PAH | c.717T>G (p.Gly239=) c.702T>G (p.Gly234=) n.476T>G | |
| 12 | g.102852940A>G | CA481331577 | PAH | c.717T>C (p.Gly239=) c.702T>C (p.Gly234=) n.476T>C | |
| 12 | g.102852940A>T | CA481331578 | PAH | c.717T>A (p.Gly239=) c.702T>A (p.Gly234=) n.476T>A | |
| 12 | g.102852941C>A | CA229711 | PAH | c.716G>T (p.Gly239Val) c.701G>T (p.Gly234Val) n.475G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852941C= | CA2059446718 | PAH | c.716G= (p.Gly239=) c.701G= (p.Gly234=) n.475G= | |
| 12 | g.102852941C>G | CA229709 | PAH | c.716G>C (p.Gly239Ala) c.701G>C (p.Gly234Ala) n.475G>C | ClinVar dbSNP |
| 12 | g.102852941C>T | CA229707 | PAH | c.716G>A (p.Gly239Asp) c.701G>A (p.Gly234Asp) n.475G>A | ClinVar dbSNP |
| 12 | g.102852942C>A | CA386295848 | PAH | c.715G>T (p.Gly239Cys) c.700G>T (p.Gly234Cys) n.474G>T | |
| 12 | g.102852942C= | CA2059446723 | PAH | c.715G= (p.Gly239=) c.700G= (p.Gly234=) n.474G= | |
| 12 | g.102852942C>G | CA386295849 | PAH | c.715G>C (p.Gly239Arg) c.700G>C (p.Gly234Arg) n.474G>C | dbSNP gnomAD v4 |
| 12 | g.102852942C>T | CA229706 | PAH | c.715G>A (p.Gly239Ser) c.700G>A (p.Gly234Ser) n.474G>A | ClinVar dbSNP |
| 12 | g.102852943A>C | CA481331582 | PAH | c.714T>G (p.Thr238=) c.699T>G (p.Thr233=) n.473T>G |